Mutations in chromatin remodelling genes occur in approximately 25% of all human tumours (Kadoch et al. Nat Genet 45: 592–601, 2013). The spectrum of alterations is broad and comprises single nucleotide variants, insertion/deletions and more complex structural variations. The single most often affected remodelling complex is the SWI/SNF complex (SWItch/sucrose non‐fermentable). In the field of paediatric neuro‐oncology, the spectrum of affected genes implicated in epigenetic remodelling is narrower with SMARCB1 and SMARCA4 being the most frequent. The low mutation frequencies in many of the SWI/SNF mutant entities underline the fact that perturbed chromatin remodelling is the most salient factor in tumourigenesis and could thus be a potential therapeutic opportunity. Here, I review the genetic basis of aberrant chromatin remodelling in paediatric brain tumours and discuss their impact on the epigenome in the respective entities, mainly medulloblastomas and rhabdoid tumours.

中文翻译：

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特邀评论：小儿脑肿瘤中染色质重塑的失调——SMARCB1 及更高版本

染色质重塑基因的突变发生在大约 25% 的人类肿瘤中（Kadoch 等人，Nat Genet 45: 592–601, 2013）。改变的范围很广，包括单核苷酸变异、插入/缺失和更复杂的结构变异。最常受影响的单一重塑复合物是 SWI/SNF 复合物（SWITCH/蔗糖不可发酵）。在儿科神经肿瘤学领域，与表观遗传重塑有关的受影响基因范围较窄，其中 SMARCB1 和 SMARCA4 最为常见。许多 SWI/SNF 突变实体的低突变频率强调了一个事实，即扰动的染色质重塑是肿瘤发生中最显着的因素，因此可能是一个潜在的治疗机会。这里，